Maria E. Rocha

Rostock, MV 18055, Germany

Last Updated: 09/26/2026

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Found 12 publications

Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing.

Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing.

Journal: Genetics in medicine open

Published: June 05, 2023

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.

Journal: Nature communications

Published: April 30, 2023

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.

Journal: Brain : a journal of neurology

Published: May 18, 2022

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.

Journal: Orphanet journal of rare diseases

Published: December 21, 2021

Immune dysregulation caused by homozygous mutations in CBLB.

Immune dysregulation caused by homozygous mutations in CBLB.

Journal: The Journal of clinical investigation

Published: August 27, 2021

Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings.

Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings.

Journal: American journal of medical genetics. Part A

Published: August 05, 2021

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 05, 2021

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

Journal: Journal of the American Society of Nephrology : JASN

Published: April 20, 2020

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.

Journal: European journal of human genetics : EJHG

Published: April 16, 2020

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Journal: NPJ genomic medicine

Published: March 16, 2020

Novel clinical and genetic insight into CXorf56-associated intellectual disability.

Novel clinical and genetic insight into CXorf56-associated intellectual disability.

Journal: European journal of human genetics : EJHG

Published: August 19, 2019

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

Journal: American journal of human genetics

Published: February 08, 2019

Showing 1-12 of 12

Last Updated: 09/26/2026